摘要目的:探讨癫痫患儿钠通道电压门控1A（ SCN1A）多态性位点rs2298771基因型与抗癫痫药物（AED）反应的关系。 方法:选择张家口市第一医院神经内科自2022年6月至2023年12月收治的62例癫痫患儿，根据患儿对AED的反应分为AED反应组、AED耐药组，每组31例。另外选取同期医院儿科收治的咽炎或轻度肠胃炎患儿31例作为对照组。采用实时定量反转录聚合酶链反应（qRT-PCR）分析患儿 SCN1A多态性位点rs2298771的基因型，比较各组患儿临床资料和 SCN1A多态性位点rs2298771基因型、等位基因的差异。采用相关性分析评价癫痫患儿SCN1A多态性位点rs2298771基因型与AED反应间的关系。采用多因素Logistic回归分析明确癫痫患儿AED反应的独立影响因素。 结果:（1）AED反应组和AED耐药组癫痫患儿的首次发作类型、服用的AED差异均有统计学意义（ P<0.05）。与AED耐药组比较，AED反应组癫痫患儿的癫痫发作频率较低，上次发作后持续时间较长，EEG检查结果为正常者、服用的AED种类为1种者占比均较高，差异均有统计学意义（ P<0.05）。（2）与对照组和AED反应组比较，AED耐药组患儿 SCN1A多态性位点rs2298771的GG基因型发生率较高，AA基因型发生率较低，A等位基因的发生率较低，G等位基因的发生率较高，差异均有统计学意义（ P<0.05）。（3）AED反应组患儿 SCN1A多态性位点rs2298771的AA和AG基因型与左乙拉西坦呈正相关关系（ P<0.05）；AED耐药组患儿 SCN1A多态性位点rs2298771的AG基因型与托吡酯、丙戊酸均呈正相关关系（ P<0.05）。（4）多因素Logistic回归分析显示上次发作后持续时间（ OR=3.249，95% CI：1.097~9.621， P=0.033）、 SCN1A多态性位点rs2298771基因型（ OR=9.660，95% CI：4.680~19.970， P=0.011）、发作频率（ OR=0.160，95% CI：0.032~0.804， P=0.026）是癫痫患儿AED反应的独立影响因素。 结论:上次发作后持续时间较短、 SCN1A多态性位点rs2298771为GG基因型、发作频率较高的癫痫患儿易对AED耐药，特别是AG基因型与患儿对托吡酯、丙戊酸耐药有关。

abstractsObjective:To investigate the relation between rs2298771 genotype in voltage-gated sodium channels 1A ( SCN1A) polymorphism and antiepileptic drug (AED) response in children with epilepsy. Methods:Sixty-two children with epilepsy admitted to Department of Neurology, Zhangjiakou First Hospital from June 2022 to December 2023 were divided into AED response group and AED resistance group ( n=31) according to their response to AED. In addition, 31 children with pharyngitis or mild gastroenteritis admitted to Department of Pediatrics at the same period were selected as control group. Real-time quantitative reverse transcription polymerase chain reaction (qRT-PCR) was used to analyze the rs2298771 genotype in SCN1A polymorphism, and differences in rs2298771 genotype and allele in SCN1A polymorphism were compared among the 3 groups. Relation between rs2298771 genotype in SCN1A polymorphism and AED response was analyzed. Multivariate Logistic regression was used to analyze the influencing factors for AED response in children with epilepsy. Results:(1) Significant differences in type of first seizure and AEDs were noted between AED response group and AED resistance group ( P<0.05); compared with the AED resistance group, the AED response group had significantly lower seizure frequency, significantly longer duration after last seizure, and statistically higher proportions of children with normal EEG or with one kind of AED ( P?0.05). (2) Compared with the control group and AED response group, the AED resistance group had significantly higher rs2298771 GC genotype and G allele, and statistically lower rs2298771 AA genotype and A allele in SCN1A polymorphism ( P?0.05). (3) In the AED response group, rs2298771 AA and AG genotype in SCN1A polymorphism were positively correlated with levetiracetam ( P?0.05); in AED resistance group, rs2298771 AG genotype in SCN1A polymorphism was positively correlated with topiramate and valproic acid ( P<0.05). (4) Multivariate Logistic regression analysis showed that duration after last seizure ( OR=3.249, 95% CI=1.097-9.621, P=0.033), rs2298771 genotype in SCN1A polymorphism ( OR=9.660, 95% CI=4.680-19.970, P=0.011) and seizure frequency ( OR=0.160, 95% CI=0.032-0.804, P=0.026) were independent influencing factors for AED response in children with epilepsy. Conclusion:Epilepsy children with shorter duration after last seizure, rs2298771 GG genotype in SCN1A polymorphism, and high seizure frequency are susceptible to AED resistance; especially, AG genotype is correlated with topiramate and valproic acid.